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Updated: May 2, 2026

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波兰同一个孩子的异常和性头:巧合还是关联?

Alessandra Greta Grassi¹, Silvia Pontesilli², Laura Demelas²

¹Pediatrics Residency, Insubria University, Varese, Italy.

American journal of medical genetics. Part A

|July 27, 2025

概括

波兰异常,一种罕见的先天性疾病,在一个患有心房脑的孩子身上被发现. 这一案例突出了以前未被描述的神经管缺陷与波兰异常的关联.

科学领域:

医学遗传学医学遗传学
发展生物学发展生物学
儿科神经学儿科神经学

背景情况:

波兰异常是一种罕见的先天性疾病,其特征是胸部肌肉缺血/生殖,有时伴有四肢异常.
波兰异常很少报告中枢神经系统形,包括面发育不良和丹迪-沃克形.
神经管闭塞缺陷以前没有被描述与波兰异常相关.

关键词:

波兰异常波兰异常缩的头脑细胞缩.大脑MRI脑部MRI脑部手的异常是手的异常.神经管缺陷是一种神经管缺陷.胸部肌肉的低成形胸部肌肉的低成形

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